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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:Flynn-Aird syndrome
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Accession:EFO:MONDO:0007624 term browser browse the term
Definition:Flynn-Aird syndrome is a neuroectodermal disorder involving the nervous, cutaneous, skeletal, and glandular systems. It has been described in 10 members from five generations of one family. Clinical manifestations include eye abnormalities (cataracts, retinitis pigmentosa, and myopia), sensorineural deafness, ataxia, peripheral neuritis, epilepsy, dementia, skin atrophy and striking dental caries. Patients also present with muscle wasting, joint stiffness and bone cysts. Flynn-Aird syndrome is transmitted as an autosomal dominant trait. It shows some similarities to the syndromes of Werner, Refsum and Cockayne.
Synonyms:exact_synonym: Orphanet:2047;   http://identifiers.org/medgen/91009;   http://identifiers.org/mesh/C537066;   http://identifiers.org/snomedct/239056006;   http://linkedlifedata.com/resource/umls/id/C0343108;   https://omim.org/entry/136300
 related_synonym: cataracts, retinitis pigmentosa, sensorineural hearing loss, ataxia, peripheral neuritis, epilepsy, dementia, skin atrophy, chronic ulceration, dental
 alt_id: MONDO:0007624
 xref: GARD:2347;   MEDGEN:91009;   MESH:C537066;   MIM:136300;   ORDO:2047;   SCTID:239056006;   UMLS:C0343108
 see_also: https://rarediseases.info.nih.gov/diseases/2347/flynn-aird-syndrome" xsd:anyURI {source="GARD:0002347


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